rs1346 chr11:65569780 A>T
- Sequence
cacgcagcacccaagggcggctgg[A/T]agcgcaatgcgcgtgcccagtaca
- ASB in cell types
- HCC1954 (ductal breast carcinoma)
- ASB for transcription factors
- NRF1_HUMAN ZN189_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) ASB
-log10 FDR of Alt (T) ASB
Details
Transcription factors
Cell types
Uniprot ID | Effect size Ref | Effect size Alt | FDR Ref | FDR Alt | Mean BAD | Motif fold change | Motif concordance | |
|---|---|---|---|---|---|---|---|---|
| NRF1_HUMAN | 2.98 | 0.08 | 1.58 | n/a | No Hit | |||
| ZN189_HUMAN | 2.36 | -2.02 | 1.00 | -4.57 | Concordant |
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Motif analysis
Genetic associations
EMBL-EBI heel bone mineral density, lumbar spine bone mineral density (integral), optic cup area, vertical cup-disc ratio
GRASP body mass index (bmi), fasting blood glucose, obesity with early age of onset (age >2), total cholesterol
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellum, Brain_Hypothalamus, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood